Abstract：
:Clear cell sarcoma is a rare and malignant soft tissue tumor that shows phenotypic and immunohistochemical overlap with cutaneous malignant melanoma; identification of biomarkers that differentiate clear cell sarcoma from malignant melanoma is therefore needed. In this study, we performed mutation analysis of BRAF and NRAS, investigated the EWSR1 gene rearrangement and evaluated the protein expression of insulin-like growth factor 2 and insulin-like growth factor 1R in 31 cases of malignant melanoma and 16 cases of clear cell sarcoma. By direct sequencing and high-resolution melting analysis, we identified BRAF and NRAS mutations in 51.6% and 12.9% of malignant melanoma cases, respectively, while none of clear cell sarcoma harbored BRAF or NRAS mutations. Fluorescence in situ hybridization showed that 78.6% of clear cell sarcoma exhibited the t(12;22)(q13;q12) translocation. The presence of type 1, 2, and 3 EWSR1/ATF1 fusion gene transcripts was confirmed by reverse transcriptase polymerase chain reaction analysis, but type 4 and EWSR1/CREB1 fusion gene transcripts were not found. No fusion transcript could be detected in any of the malignant melanoma cases. Additionally, immunohistochemistry showed that the majority of clear cell sarcoma and malignant melanoma had insulin-like growth factor 2 and insulin-like growth factor receptor 1 expression; however the expression of insulin-like growth factor 1R was significantly higher in clear cell sarcoma compared to melanoma (p = .006). Our results suggest that the combination of BRAF and NRAS mutation analysis with fusion gene detection contributes to diagnosis of malignant melanoma and clear cell sarcoma, and that insulin-like growth factor 1R might be a novel target for the treatment of these two malignancies.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Yang L,Chen Y,Cui T,Knösel T,Zhang Q,Geier C,Katenkamp D,Petersen Idoi
10.1016/j.humpath.2011.10.022subject
Has Abstractpub_date
2012-09-01 00:00:00pages
1463-70issue
9eissn
0046-8177issn
1532-8392pii
S0046-8177(11)00472-2journal_volume
43pub_type
杂志文章相关文献
HUMAN PATHOLOGY文献大全abstract：:A distinctive ultrastructural finding, observed in a case of acute lymphoblastic leukemia (ALL) and previously unreported on the surface of bone marrow cells, is described. The alteration is referred to as distinctive cytoplasmic surface activity (DCSA). For further delineation, study of 130 consecutively submitted bo...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(87)80166-1
更新日期：1987-04-01 00:00:00
abstract：:Isolated submandibular adenopathy developed in a patient who had subacute erythroleukemia. Lymph node biopsy revealed a proliferation of immature cells and scattered foci of dyserythropoietic normoblasts. Since a review of the literature revealed no detailed description of an erythroleukemic lymph node infiltrate, a h...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(84)80254-3
更新日期：1984-11-01 00:00:00
abstract：:Gastrointestinal stromal tumors have a wide spectrum of biologic behavior, and occasional cases show liver metastases. The modified risk grade based on tumor size and mitotic counts has been proposed to predict the biologic behavior in gastric gastrointestinal stromal tumors. Blood vessel invasion (BVI) is important i...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2010.02.013
更新日期：2010-10-01 00:00:00
abstract：:NLRC3 is a member of the nucleotide-binding domain and leucine-rich repeat (NLR) family protein that plays a role in inflammation and immunity. Although chronic inflammation has been identified as a hallmark of cancer, NLRC3 expression correlation with the development and prognosis of hepatocellular carcinoma (HCC) is...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2018.07.031
更新日期：2018-12-01 00:00:00
abstract：:Mucoepidermoid carcinoma of the breast is a rare entity with specific morphologic and immunohistochemical features similar to its salivary gland counterpart. In the 28 reported cases to date, there has not been a comparison of the molecular characteristics of this tumor with salivary gland mucoepidermoid carcinomas. H...
journal_title：Human pathology
pub_type： 杂志文章,评审
doi：10.1016/j.humpath.2008.11.004
更新日期：2009-06-01 00:00:00
abstract：:The mucin profile of 24 endoscopic biopsies of heterotopic gastric mucosa (HGM) of the upper esophagus in adults and a control group of ten cases of Meckel's diverticula containing heterotopic gastric mucosa were studied with two combined histochemical methods: alcian blue pH 2.5/PAS and high iron diamine/alcian blue ...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(88)80285-5
更新日期：1988-11-01 00:00:00
abstract：:Angiotropic lymphoma (AL) is an unusual variant of extranodal lymphoma, characterized by massive proliferation of neoplastic lymphoid cells almost exclusively within blood vessels. Whereas the lymphoid origin of this disease is widely accepted it still remains unclear whether AL is a distinct entity that originates in...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1053/hupa.2000.7636
更新日期：2000-07-01 00:00:00
abstract：:To increase awareness of the possible coexistence of an ovarian and breast carcinoma in a BRCA1 mutation carrier, we describe a patient with primary ovarian cancer who developed distant metastases after 3 years and again after 6 years. Surprisingly, at that time an occult breast carcinoma was identified to be the orig...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2003.11.008
更新日期：2004-05-01 00:00:00
abstract：:Angiocentric immunoproliferative lesions (AILs) are believed to represent a unique type of extranodal malignant lymphoma on the basis of clinicopathologic and immunophenotypic evidence. However, molecular studies to assess clonality have been performed on a small number of cases. In this study we assessed the clonalit...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/0046-8177(91)90269-u
更新日期：1991-11-01 00:00:00
abstract：:After endoscopic resection of early gastric cancer (EGC), it is imperative to accurately determine whether follow-up surgery is indicated, since this technique is used as a first line of treatment. Herein, we developed a scoring system to indicate the risk of lymph node metastasis in submucosal EGC (smEGC), and presen...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2013.07.037
更新日期：2013-12-01 00:00:00
abstract：:In the past decade most studies of coronary arterial aneurysms have been clinical; few have focused on morphology and etiopathogenesis. The subjects of the present autopsy study were 52 patients, 5 months to 80 years of age, with coronary arterial aneurysms. Patients were divided into two groups: 38 with atherosclerot...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(86)80129-0
更新日期：1986-06-01 00:00:00
abstract：:Polymer substances are commonly applied as surface coatings on endovascular catheters and vascular devices. Adverse effects related to their use have been reported, although the overall clinical significance and appropriate methods of detection of these complications have been unclear. In this analysis, we systematica...
journal_title：Human pathology
pub_type： 杂志文章,评审
doi：10.1016/j.humpath.2016.01.018
更新日期：2016-07-01 00:00:00
abstract：:The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL, and CALR. However, the biological role and clinical impact of most other mutations are not well defined. We interrogated 101 genes in 143 BCR-ABL1-negative MPNs in chronic phase f...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2018.11.022
更新日期：2019-04-01 00:00:00
abstract：:A 39-year-old female patient was admitted to explore chronic renal failure. Clinical history included silicone breast implants. Clinical examination was normal. Urinalysis revealed tubular proteinuria with Bence-Jones κ protein. Monoclonal immunoglobulin G κ and free monoclonal κ-light chains (LCs) were revealed by se...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2014.10.008
更新日期：2015-01-01 00:00:00
abstract：:To analyze the differentiation characteristics of extranodal natural killer/T-cell lymphoma, nasal type, one nude mouse model, cell lines SNK6 and SNT8, and 16 fresh human samples were analyzed by flow cytometry immunophenotyping and immunohistochemistry staining; and 115 archived cases were used for phenotypic detect...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2014.04.024
更新日期：2014-11-01 00:00:00
abstract：:Digitization of glass slides holds great promise for increasing workflow efficiency, but current applications have not gained widespread acceptance. Applications to date have not taken into consideration pathologists' workflow patterns, and as a result many find navigation cumbersome and interpretation more challengin...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2008.01.006
更新日期：2008-09-01 00:00:00
abstract：:Refractile foreign particles within clear vacuoles were observed in capillaries of 17 patients who underwent cardiopulmonary bypass surgery, died, and were autopsied at the George Washington University Hospital from December 1978 through April 1981. The postoperative survival time ranged from less than one day to more...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(82)80243-8
更新日期：1982-12-01 00:00:00
abstract：:Several techniques for diagnosing adenocarcinoma of the lung are commonly available, but the frequency of their use and diagnostic sensitivity may vary. Twenty cases of primary lung adenocarcinoma obtained at surgery were studied by the following four routine techniques: light microscopy (LM) using hematoxylin-eosin (...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(88)80005-4
更新日期：1988-08-01 00:00:00
abstract：:The proliferation marker mitotic activity index is the strongest prognostic indicator in lymph node-negative breast cancer. The World Health Organization (WHO) 2003-defined procedure for determining WHO-mitotic activity index is often replaced by a quick scan mitotic impression. We evaluated the prognostic consequence...
journal_title：Human pathology
pub_type： 杂志文章,多中心研究
doi：10.1016/j.humpath.2007.08.016
更新日期：2008-04-01 00:00:00
abstract：:The differential diagnosis of glandular lesions of the bladder/urinary tract can be challenging because of significant morphologic and immunohistochemical overlap between primary lesions and metastasis/direct extension from adjacent organs. Special AT-rich sequence-binding protein 2 (SATB2), encoded on chromosome 2q32...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2017.07.002
更新日期：2017-09-01 00:00:00
abstract：:Immunohistochemical localization of transforming growth factor beta 1 (TGF-beta 1) was studied in Kaposi's sarcoma (KS) tissues obtained from autopsy and biopsy materials of patients with and without acquired immunodeficiency syndrome (AIDS) or human immunodeficiency virus (HIV) infection. There was no difference in t...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/0046-8177(95)90241-4
更新日期：1995-05-01 00:00:00
abstract：:Tumor proliferation in bladder cancer is associated with tumor behavior. To assess the association between Ki-67 labeling index (LI), p53, and c-erbB-2 overexpression, formalin-fixed tissue samples of 160 patients with transitional cell carcinoma (TCC) of the urinary bladder were studied by immunohistochemistry. Ki-67...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/0046-8177(94)90096-5
更新日期：1994-12-01 00:00:00
abstract：:A 60-year-old man was admitted for progressive visual loss in both eyes. He was diagnosed with retinopathy and chest computed tomography revealed an invasive thymoma. In western blot analysis, serum autoantibodies against recoverin, photoreceptor-specific calcium-binding protein, and heat shock cognate protein 70 whic...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(03)00183-7
更新日期：2003-07-01 00:00:00
abstract：:Atypical mesothelial hyperplasia encountered in pleural fluid or in a pleural biopsy specimen raises the suspicion that one may be dealing with a diffuse malignant mesothelioma of the pleura. We studied eight cases with cytologic or histologic changes of mesothelial atypia thought to be suspicious for diffuse malignan...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/0046-8177(91)90292-w
更新日期：1991-07-01 00:00:00
abstract：:A distinctive variant of basal cell adenoma called membranous basal cell adenoma is well recognized in salivary glands. It appears identical to cutaneous cylindroma, hence the synonym dermal analogue tumor. We present a case of a tumor involving the parotid gland that appeared identical to cutaneous spiradenoma. In ad...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2009.02.015
更新日期：2009-10-01 00:00:00
abstract：:The pertinent clinical data and histologic features of the testes in 57 autopsied acquired immunodeficiency syndrome (AIDS) patients were analyzed and compared with those of 55 age-matched control patients without AIDS. The testes of the AIDS patients showed a significantly lower degree of spermatogenesis (determined ...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/0046-8177(89)90125-1
更新日期：1989-03-01 00:00:00
abstract：:Among women in Taiwan, thyroid cancer is the fifth most common malignant neoplasia. However, genomic profiling of papillary thyroid cancer (PTC) cases from Taiwan has not been attempted previously. We used whole-exome sequencing to identify mutations in a cohort of 19 PTC patients. Sequencing was performed using the I...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2018.04.023
更新日期：2018-08-01 00:00:00
abstract：:α-Thalassemia/mental retardation syndrome X-linked protein (ATRX) and death domain-associated protein (DAXX) genes are tumor suppressors whose mutations have been identified in sporadic pancreatic neuroendocrine tumors as well as in patients with MEN1. However, it is unknown whether ATRX and DAXX alterations are speci...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2013.04.025
更新日期：2013-10-01 00:00:00
abstract：:Epithelial inclusions in the axillary lymph nodes are very rare and have even less commonly been reported with either benign or malignant changes. We present a case of synchronous high-grade micropapillary ductal carcinoma in situ arising in the breast and in an epithelial inclusion in an ipsilateral sentinel lymph no...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/j.humpath.2012.07.012
更新日期：2013-01-01 00:00:00
abstract：:Bone Marrow Transplant (BMT) is a critical therapeutic intervention for a variety of diseases occurring in the pediatric patient. Complications of allogeneic BMT include graft-versus-host disease (GVHD), infection, drug toxicity, thrombotic microangiopathy, and veno-occlusive disease. With solid organ transplantation,...
journal_title：Human pathology
pub_type： 杂志文章
doi：10.1016/s0046-8177(99)90132-6
更新日期：1999-07-01 00:00:00
